Problemi non correnti
Immunodeficienza e autoimmunità
IMMUNODEFICIENCY AND AUTOIMMUNITY
ANDREA TADDIO, ERICA VALENCIC, FRANCESCA MASCHIO, ALBERTO TOMMASINI
Laboratorio della Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Dicembre 2005 - pagg. 653 -658
Abstract
The recent identification of the genes involved in many primary immunodeficiency disorders
has led to a significant increase in our understanding of the pathogenesis of these defects.
Many of these disorders share common features, such as recurrent infections, chronic inflammation,
and autoimmunity. The two main immunodeficiencies presenting with immunodeficiency
and autoimmunity are: APECED (Autoimmune Polyendocrinopathy, Candidiasis
and Ectodermal Distrophy) and IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy,
X-linked syndrome). APECED is an autosomal-recessive syndrome caused by mutations
in the autoimmune regulator gene AIRE and defined by two of the following conditions: chronic
mucocutaneous candidiasis, hypoparathyroidism, or Addison’s disease. Other autoimmune
conditions may be associated, such as hypothyroidism, hypogonadism, insulin
dependent diabetes mellitus, chronic active hepatitis, pernicious anemia, alopecia and ectodermal
dysplasia. IPEX is caused by mutations in FOXP3 gene and it is one of a group of
clinical syndromes that present with multisystemic autoimmune disease suggesting a phenotype
of immune dysregulation.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Ugazio AG, Duse M, Notarangelo LD, Plebani
A, Porta E. Il bambino immunodepresso.
Milano: Casa Editrice Ambrosiana, 1999.
2. Aldrich RA, Steinberg AC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954;13:133-7.
3. Good RA, Dalmasso AP, Martinez C, Archer OK, Pierce JC, Papermaster BW. The role of the thymus in the development of immunologic capacity in rabbits and mice. J Exp Med 1962;116:773-96.
4. Buckley RH. Primary immunodeficiency diseases: dissectors of the immune system. Immunol Rev 2002;185:206-19.
5. Powell BR, Buist NR, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982; 100:731-7.
6. Bennet CL. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001;27:20-2.
7. Bennett CL, Ochs HD. IPEX is a unique Xlinked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr 2001;13:533-8.
8. Ferguson PJ, Blanton SH, Saulsbury FT, et al. Manifestations and linkage analysis in X linked autoimmunity-immunodeficiency syndrome. Am J Med Genet 2000;90:390-7.
9. Baud O, Goulet O, Canioni D, Le Deist F, Redford I, Rieu D, et al. Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX) by allogenic Bone Marrow Transplantation. N Engl J Med 2001;344:1758-62.
10. Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 2003;111(5):622-7.
11. Ramsdell F. FOXP3 and natural Regulatory T cells: Key to a Cell Lineage. Immunity 2003; 19:165-8.
12. Conley ME, Saragoussi D, Notarangelo LD, Etzioni A, Casanova JL. An International Study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. Clin Immunol 2003;109:272-7.
13. Cunningham-Rundless C. Clinical and Immunological analysis of 103 patients with CVID. J Clin Immunol 1989;9:22-33.
14. Signorini S, Imberti L, Pirovano S, Villa A, Facchetti F, Ungari M, et al. Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. Blood 1999; 15;94(10):3468-78.
15. Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Inv 2005;115(3):728-32.
16. Boe AS, Knappskag PM, Myhre AG, Sarheim JI, Husebye ES. Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison’s disease can reveal patients with autoimmune polyendocrine syndrome type 1. Eur J Endocrinol 2002; 146(4):519-22.
17. Zavattari P, Deidda E, Pitzalis M, Zoa B, Moi L, Lampis R, et al. No Association Beetween Variations of the FOXP3 Gene and Common Type 1 Diabetes in the Sardinian Population. Diabetes 2004;53: 1911-14.
18. Pignata M, Gaetanello C, Masci AM, Frank J, Cristiano A, Matrecano E, Racioppi L. Human Equivalent of the mouse Nude/SCID phenotype: long term evaluation of immunologic reconstitution after bone marrow transplantation. Blood 2001;15,97(4):880-5.
2. Aldrich RA, Steinberg AC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954;13:133-7.
3. Good RA, Dalmasso AP, Martinez C, Archer OK, Pierce JC, Papermaster BW. The role of the thymus in the development of immunologic capacity in rabbits and mice. J Exp Med 1962;116:773-96.
4. Buckley RH. Primary immunodeficiency diseases: dissectors of the immune system. Immunol Rev 2002;185:206-19.
5. Powell BR, Buist NR, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982; 100:731-7.
6. Bennet CL. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001;27:20-2.
7. Bennett CL, Ochs HD. IPEX is a unique Xlinked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr 2001;13:533-8.
8. Ferguson PJ, Blanton SH, Saulsbury FT, et al. Manifestations and linkage analysis in X linked autoimmunity-immunodeficiency syndrome. Am J Med Genet 2000;90:390-7.
9. Baud O, Goulet O, Canioni D, Le Deist F, Redford I, Rieu D, et al. Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX) by allogenic Bone Marrow Transplantation. N Engl J Med 2001;344:1758-62.
10. Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 2003;111(5):622-7.
11. Ramsdell F. FOXP3 and natural Regulatory T cells: Key to a Cell Lineage. Immunity 2003; 19:165-8.
12. Conley ME, Saragoussi D, Notarangelo LD, Etzioni A, Casanova JL. An International Study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. Clin Immunol 2003;109:272-7.
13. Cunningham-Rundless C. Clinical and Immunological analysis of 103 patients with CVID. J Clin Immunol 1989;9:22-33.
14. Signorini S, Imberti L, Pirovano S, Villa A, Facchetti F, Ungari M, et al. Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. Blood 1999; 15;94(10):3468-78.
15. Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Inv 2005;115(3):728-32.
16. Boe AS, Knappskag PM, Myhre AG, Sarheim JI, Husebye ES. Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison’s disease can reveal patients with autoimmune polyendocrine syndrome type 1. Eur J Endocrinol 2002; 146(4):519-22.
17. Zavattari P, Deidda E, Pitzalis M, Zoa B, Moi L, Lampis R, et al. No Association Beetween Variations of the FOXP3 Gene and Common Type 1 Diabetes in the Sardinian Population. Diabetes 2004;53: 1911-14.
18. Pignata M, Gaetanello C, Masci AM, Frank J, Cristiano A, Matrecano E, Racioppi L. Human Equivalent of the mouse Nude/SCID phenotype: long term evaluation of immunologic reconstitution after bone marrow transplantation. Blood 2001;15,97(4):880-5.
Corrispondenza: ataddio@yahoo.it